LOCUS       NM_001195               2217 bp    mRNA    linear   PRI 28-APR-2025
DEFINITION  Homo sapiens beaded filament structural protein 1 (BFSP1),
            transcript variant 1, mRNA.
ACCESSION   NM_001195
VERSION     NM_001195.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2217)
  AUTHORS   Jarrin,M., Kalligeraki,A.A., Uwineza,A., Cawood,C.S., Brown,A.P.,
            Ward,E.N., Le,K., Freitag-Pohl,S., Pohl,E., Kiss,B., Tapodi,A. and
            Quinlan,R.A.
  TITLE     Independent Membrane Binding Properties of the Caspase Generated
            Fragments of the Beaded Filament Structural Protein 1 (BFSP1)
            Involves an Amphipathic Helix
  JOURNAL   Cells 12 (12), 1580 (2023)
   PUBMED   37371051
  REMARK    GeneRIF: Independent Membrane Binding Properties of the Caspase
            Generated Fragments of the Beaded Filament Structural Protein 1
            (BFSP1) Involves an Amphipathic Helix.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2217)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2217)
  AUTHORS   Chaves,J.M., Gupta,R., Srivastava,K. and Srivastava,O.
  TITLE     Human alpha A-crystallin missing N-terminal domain poorly complexes
            with filensin and phakinin
  JOURNAL   Biochem Biophys Res Commun 494 (1-2), 402-408 (2017)
   PUBMED   28935373
  REMARK    GeneRIF: The results suggest that the N-terminal domain of CRYAA is
            required during in vitro complex formation with filensin and
            phakinin.
REFERENCE   4  (bases 1 to 2217)
  AUTHORS   Wang,H., Zhang,T., Wu,D. and Zhang,J.
  TITLE     A novel beaded filament structural protein 1 (BFSP1) gene mutation
            associated with autosomal dominant congenital cataract in a Chinese
            family
  JOURNAL   Mol Vis 19, 2590-2595 (2013)
   PUBMED   24379646
  REMARK    GeneRIF: A novel mutation (c.1042G>A) at exon 7 of BFSP1, which
            creates a substitution of an aspartate to an asparagine (p.D348N)
            was identified to be associated with autosomal dominant congenital
            cataract in a Chinese family.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2217)
  AUTHORS   Rendtorff,N.D., Hansen,C., Silahtaroglu,A., Henriksen,K.F. and
            Tommerup,N.
  TITLE     Isolation of the human beaded-filament structural protein 1 gene
            (BFSP1) and assignment to chromosome 20p11.23-p12.1
  JOURNAL   Genomics 53 (1), 114-116 (1998)
   PUBMED   9787085
REFERENCE   6  (bases 1 to 2217)
  AUTHORS   Sandilands,A., Prescott,A.R., Carter,J.M., Hutcheson,A.M.,
            Quinlan,R.A., Richards,J. and FitzGerald,P.G.
  TITLE     Vimentin and CP49/filensin form distinct networks in the lens which
            are independently modulated during lens fibre cell differentiation
  JOURNAL   J Cell Sci 108 (Pt 4), 1397-1406 (1995)
   PUBMED   7615661
REFERENCE   7  (bases 1 to 2217)
  AUTHORS   Merdes,A., Gounari,F. and Georgatos,S.D.
  TITLE     The 47-kD lens-specific protein phakinin is a tailless intermediate
            filament protein and an assembly partner of filensin
  JOURNAL   J Cell Biol 123 (6 Pt 1), 1507-1516 (1993)
   PUBMED   7504675
REFERENCE   8  (bases 1 to 2217)
  AUTHORS   Hess,J.F., Casselman,J.T. and FitzGerald,P.G.
  TITLE     cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a
            new, lens-specific member of the intermediate filament family?
  JOURNAL   Curr Eye Res 12 (1), 77-88 (1993)
   PUBMED   7679620
REFERENCE   9  (bases 1 to 2217)
  AUTHORS   Brunkener,M. and Georgatos,S.D.
  TITLE     Membrane-binding properties of filensin, a cytoskeletal protein of
            the lens fiber cells
  JOURNAL   J Cell Sci 103 (Pt 3), 709-718 (1992)
   PUBMED   1478967
REFERENCE   10 (bases 1 to 2217)
  AUTHORS   Merdes,A., Brunkener,M., Horstmann,H. and Georgatos,S.D.
  TITLE     Filensin: a new vimentin-binding, polymerization-competent, and
            membrane-associated protein of the lens fiber cell
  JOURNAL   J Cell Biol 115 (2), 397-410 (1991)
   PUBMED   1918147
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031664.1, BF727338.1,
            Y16717.2 and BC041483.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001195.4.
            
            Summary: This gene encodes a lens-specific intermediate
            filament-like protein named filensin. The encoded protein is
            expressed in lens fiber cells after differentiation has begun. This
            protein functions as a component of the beaded filament which is a
            cytoskeletal structure found in lens fiber cells. Mutations in this
            gene are the cause of autosomal recessive cortical juvenile-onset
            cataract. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF039655.1, SRR1803611.1141.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377873.8/ ENSP00000367104.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AL031664.1         132740-132749       c
            11-59               BF727338.1         1-49
            60-1799             Y16717.2           10-1749
            1800-2217           BC041483.1         1646-2063
FEATURES             Location/Qualifiers
     source          1..2217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.1"
     gene            1..2217
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /note="beaded filament structural protein 1"
                     /db_xref="GeneID:631"
                     /db_xref="HGNC:HGNC:1040"
                     /db_xref="MIM:603307"
     exon            1..427
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..2048
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytoskeletal protein, 115 KD; lens intermediate
                     filament-like heavy; lens fiber cell beaded-filament
                     structural protein CP 115; beaded filament structural
                     protein 1, filensin"
                     /codon_start=1
                     /product="filensin isoform 1"
                     /protein_id="NP_001186.1"
                     /db_xref="CCDS:CCDS13126.1"
                     /db_xref="GeneID:631"
                     /db_xref="HGNC:HGNC:1040"
                     /db_xref="MIM:603307"
                     /translation="MYRRSYVFQTRKEQYEHADEASRAAEPERPADEGWAGATSLAAL
                     QGLGERVAAHVQRARALEQRHAGLRRQLDAFQRLGELAGPEDALARQVESNRQRVRDL
                     EAERARLERQGTEAQRALDEFRSKYENECECQLLLKEMLERLNKEADEALLHNLRLQL
                     EAQFLQDDISAAKDRHKKNLLEVQTYISILQQIIHTTPPASIVTSGMREEKLLTEREV
                     AALRSQLEEGREVLSHLQAQRVELQAQTTTLEQAIKSAHECYDDEIQLYNEQIETLRK
                     EIEETERVLEKSSYDCRQLAVAQQTLKNELDRYHRIIEIEGNRLTSAFIETPIPLFTQ
                     SHGVSLSTGSGGKDLTRALQDITAAKPRQKALPKNVPRRKEIITKDKTNGALEDAPLK
                     GLEDTKLVQVVLKEESESKFESESKEVSPLTQEGAPEDVPDGGQISKGFGKLYRKVKE
                     KVRSPKEPETPTELYTKERHVLVTGDANYVDPRFYVSSITAKGGVAVSVAEDSVLYDG
                     QVEPSPESPKPPLENGQVGLQEKEDGQPIDQQPIDKEIEPDGAELEGPEEKREGEERD
                     EESRRPCAMVTPGAEEPSIPEPPKPAADQDGAEVLGTRSRSLPEKGPPKALAYKTVEV
                     VESIEKISTESIQTYEETAVIVETMIGKTKSDKKKSGEKSS"
     exon            428..488
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     exon            489..584
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     exon            585..677
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     exon            678..785
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     exon            786..1006
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1092
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..2217
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2194..2199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /note="hexamer: ATTAAA"
     polyA_site      2217
                     /gene="BFSP1"
                     /gene_synonym="CP115; CP94; CTRCT33; LIFL-H"
                     /note="major polyA site"
ORIGIN      
        1 ctcctggaga gccggctcgg cgccgcccgc gcgcccgcgc cagagcagcc atgtaccggc
       61 gcagctacgt cttccagacc cgcaaggagc agtacgagca cgccgacgag gcttcgcgcg
      121 ccgccgagcc cgagcgcccg gccgacgagg gctgggctgg ggcaacgagc ctggcggcgc
      181 tgcaggggct cggcgagcgc gtggccgccc acgtccagcg ggcccgcgcc ctcgagcagc
      241 gccatgccgg gctccggagg cagctggatg ccttccagcg cctgggcgag ctggccgggc
      301 ccgaggacgc cctcgcccgc caagtcgaga gcaaccgcca gcgcgtccgg gacctggagg
      361 ccgagcgcgc ccggctggag cgccagggca ccgaggcgca gcgcgcgctc gacgagttcc
      421 gaagcaagta tgaaaatgag tgcgaatgtc aactcctgct aaaagaaatg cttgaacggc
      481 ttaacaagga agctgatgaa gccttgctgc ataacctacg ccttcagctg gaagcccaat
      541 ttctgcaaga tgatatcagt gcggcaaagg acaggcacaa gaagaatctt ctggaagttc
      601 agacctatat cagcatcctg cagcagatca tccacaccac tcctccagca tccattgtga
      661 cgagtgggat gagggaggag aagctcctga cggagcggga ggtggccgcc ctgcggagtc
      721 agctggagga gggccgggag gtgctctccc acctgcaggc gcagagagtg gagctgcagg
      781 cacagacaac aactctggaa caagctatta aaagtgccca tgagtgttat gacgatgaga
      841 ttcagcttta taacgagcag attgagacac tgcgcaagga gattgaggag acagagcggg
      901 tcctggagaa gtcttcttac gactgccggc agctggcggt cgcccagcaa accctgaaga
      961 atgagctgga ccggtatcat cgtatcatcg agattgaagg caacaggctg acctctgcct
     1021 tcattgaaac tcccattccc ctgttcaccc agagccatgg agtctctctc agcactggat
     1081 ccggtgggaa agatcttacc agagctctgc aggatataac agcagcaaaa ccaagacaaa
     1141 aagccctccc caagaatgtt ccaaggagaa aagagattat aacaaaagac aaaaccaacg
     1201 gagctctgga agatgcacca ttaaaaggtt tggaagacac aaagctggta caggtggtac
     1261 ttaaagagga aagtgaatct aagtttgaat cagaaagtaa agaagtaagt cccctgacac
     1321 aagaaggggc tccagaggat gtgccagatg gagggcagat aagcaaaggc tttgggaaac
     1381 tatacaggaa ggtcaaggag aaagtgagaa gccccaaaga gcctgagacc cccactgagc
     1441 tctacaccaa agagcggcac gtgctggtca caggggatgc caattacgtg gaccctagat
     1501 tctatgtctc ctccatcaca gctaaaggtg gggtggctgt ttctgttgcg gaagactctg
     1561 tgctttatga cggccaggtg gagccctctc ctgagtcacc caagccccct ttagagaatg
     1621 ggcaggtggg tctgcaggag aaagaagatg gacaaccaat tgaccagcag cctatagaca
     1681 aggagattga gccagatggt gcagagctgg aaggccctga agagaaacgt gagggtgagg
     1741 agcgggacga agagtccagg agaccctgtg ccatggtcac acccggtgca gaggaaccat
     1801 ctatacctga gcctccaaag cctgcggctg atcaggatgg agctgaggtg cttgggacta
     1861 ggagcagaag cctgccagaa aaaggccctc ccaaggcttt ggcctataag acagtggaag
     1921 tggtggaatc tatcgagaag atttccacgg agagcattca gacatatgaa gaaaccgctg
     1981 tgatcgtgga gaccatgatt ggaaagacaa agtcagacaa gaagaaatca ggagagaaga
     2041 gctcttaaaa tgcccaggct tgatgggata aaatgtattt ggggccactg taggggtaat
     2101 gctttgatat tttagagcaa atgataaaag ggtgagggtt cctgtttgga ttagaccata
     2161 gttgacccat ctggcattgc caacgaagcc ttcattaaaa tgttttcttt gcttgca
//
